Congenital heart disease and chromossomopathies detected by the karyotype.

Objective: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype.

Data Sources: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on.

Unroofed coronary sinus in a patient with neurofibromatosis type 1.

Objective: To report the uncommon association between neurofibromatosis type 1 (NF1) and unroofed coronary sinus.

Case Description: Girl with four years and six months old who was hospitalized for heart surgery. The cardiac problem was discovered at four months of life.

Gestational, perinatal and family findings of patients with Patau syndrome.

Objective: To describe gestational, perinatal and family findings of patients with Patau syndrome (PS).

Methods: The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records.

Imperfect twinning: a clinical and ethical dilemma.

Unlabelled: OBJECTIVE To review the history, epidemiology, etiology, gestational aspects, diagnosis and prognosis of imperfect twinning. DATA SOURCES Scientific articles were searched in PubMed, SciELO and Lilacs databases, using the descriptors "conjoined twins", "multiple pregnancy", "ultrasound", "magnetic resonance imaging" and "prognosis". The research was not delimited to a specific period of time and was supplemented with bibliographic data from books.

Craniofacial abnormalities among patients with Edwards Syndrome.

Unlabelled: OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records.

Congenital heart defects and extracardiac malformations.

Objective: To review the association between congenital heart defects and extracardiac malformations.

Data Sources: Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included.

Trisomy 18: review of the clinical, etiologic, prognostic, and ethical aspects.

Objective: To review the clinical, etiological, diagnostic, and prognostic characteristics of trisomy 18 (Edwards syndrome).

Data Sources: Scientific articles in the MedLine, Lilacs, and SciELO databases were searched using the descriptors 'trisomy 18' and 'Edwards syndrome'. The research was not limited to a specific time period and included all articles in such databases.